ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.1159T>C (p.Phe387Leu)

gnomAD frequency: 0.00001  dbSNP: rs370794111
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001919722 SCV002165124 benign Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome 2022-08-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV003247115 SCV003944375 uncertain significance Inborn genetic diseases 2023-04-24 criteria provided, single submitter clinical testing The c.1159T>C (p.F387L) alteration is located in exon 8 (coding exon 7) of the GLI3 gene. This alteration results from a T to C substitution at nucleotide position 1159, causing the phenylalanine (F) at amino acid position 387 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005042474 SCV005666136 uncertain significance Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome; Polysyndactyly 4; Polydactyly, postaxial, type A1 2024-05-07 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.